ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.317_318del (p.Tyr106fs) (rs1555166466)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539020 SCV000628078 pathogenic Multiple endocrine neoplasia, type 1 2017-05-04 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides from exon 2 of the MEN1 mRNA (c.317_318delAT), causing a frameshift at codon 106. This creates a premature translational stop signal (p.Tyr106Serfs*10) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in MEN1 are known to be pathogenic. This particular variant has been reported in the literature in a family affected with multiple endocrine neoplasia 1 (PMID: 10090472). For these reasons, this variant has been classified as Pathogenic.

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